{
  "id": 16468,
  "label": "familial scaphocephaly syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015704",
  "properties": {
    "xrefs": [
      "GARD:0020113",
      "MEDGEN:797875",
      "MedDRA:10072229",
      "Orphanet:169163",
      "UMLS:C3267076"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16201,
      "label": "syndromic craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16310,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019911",
          "MEDGEN:1842203",
          "Orphanet:139393",
          "UMLS:C5680624"
        ],
        "synonyms": [
          "syndrome associated with craniosynostosis",
          "syndromic craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A craniosynostosis that is part of a larger syndrome."
      },
      "child_count": 120,
      "reference_id": "MONDO:0015338"
    }
  ],
  "children": [
    {
      "id": 8792,
      "label": "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3395,
        16468,
        19709,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000998",
          "MEDGEN:325006",
          "MESH:C563973",
          "OMIM:123155",
          "Orphanet:1538",
          "SCTID:720813007",
          "UMLS:C1838347"
        ],
        "synonyms": [
          "Braddock-Jones-Superneau syndrome",
          "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome",
          "Braddock Jones Superneau syndrome",
          "Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus",
          "HDCPH1",
          "hydrocephalus, autosomal dominant",
          "sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007401"
    },
    {
      "id": 13363,
      "label": "familial scaphocephaly syndrome, McGillivray type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16468
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003426",
          "MEDGEN:355365",
          "MESH:C566511",
          "OMIM:609579",
          "Orphanet:168624",
          "UMLS:C1865070",
          "icd11.foundation:512057922"
        ],
        "synonyms": [
          "scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome",
          "scaphocephaly, maxillary retrusion, and intellectual disability",
          "scaphocephaly, maxillary retrusion, and mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012307"
    }
  ],
  "roots": [
    {
      "id": 16201,
      "label": "syndromic craniosynostosis"
    }
  ]
}